ClinVar Miner

List of variants in gene RAG1 reported as pathogenic

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Total variants: 131
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HGVS dbSNP gnomAD frequency
NM_000448.3(RAG1):c.1566G>T (p.Trp522Cys) rs193922461 0.00009
NM_000448.3(RAG1):c.1A>G (p.Met1Val) rs200575481 0.00007
NM_000448.3(RAG1):c.2521C>T (p.Arg841Trp) rs104894287 0.00006
NM_000448.3(RAG1):c.256_257del (p.Lys86fs) rs772962160 0.00005
NM_000448.3(RAG1):c.2924G>A (p.Arg975Gln) rs150739647 0.00004
NM_000448.3(RAG1):c.1228C>T (p.Arg410Trp) rs758288006 0.00003
NM_000448.3(RAG1):c.1303A>G (p.Met435Val) rs141524540 0.00003
NM_000448.3(RAG1):c.2210G>A (p.Arg737His) rs104894286 0.00003
NM_000448.3(RAG1):c.2258A>T (p.His753Leu) rs199474687 0.00003
NM_000448.3(RAG1):c.2348C>G (p.Ser783Ter) rs754502950 0.00003
NM_000448.3(RAG1):c.322C>T (p.Arg108Ter) rs193922464 0.00003
NM_000448.3(RAG1):c.335G>A (p.Arg112His) rs749223640 0.00003
NM_000448.3(RAG1):c.1186C>T (p.Arg396Cys) rs104894289 0.00002
NM_000448.3(RAG1):c.1187G>A (p.Arg396His) rs104894291 0.00002
NM_000448.3(RAG1):c.1211G>A (p.Arg404Gln) rs750055861 0.00002
NM_000448.3(RAG1):c.1420C>T (p.Arg474Cys) rs199474678 0.00002
NM_000448.3(RAG1):c.1501C>T (p.Gln501Ter) rs769349662 0.00002
NM_000448.3(RAG1):c.1682G>A (p.Arg561His) rs104894284 0.00002
NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp) rs199474676 0.00002
NM_000448.3(RAG1):c.2143del (p.Val715fs) rs773194976 0.00002
NM_000448.3(RAG1):c.2488A>T (p.Lys830Ter) rs755551812 0.00002
NM_000448.3(RAG1):c.527G>T (p.Cys176Phe) rs149229197 0.00002
NM_000448.3(RAG1):c.1180C>T (p.Arg394Trp) rs1590702874 0.00001
NM_000448.3(RAG1):c.1229G>A (p.Arg410Gln) rs199474684 0.00001
NM_000448.3(RAG1):c.1297G>A (p.Val433Met) rs199474679 0.00001
NM_000448.3(RAG1):c.1331C>T (p.Ala444Val) rs199474685 0.00001
NM_000448.3(RAG1):c.1421G>A (p.Arg474His) rs199474686 0.00001
NM_000448.3(RAG1):c.1565G>A (p.Trp522Ter) rs1378936510 0.00001
NM_000448.3(RAG1):c.1681C>T (p.Arg561Cys) rs104894285 0.00001
NM_000448.3(RAG1):c.1871G>A (p.Arg624His) rs199474680 0.00001
NM_000448.3(RAG1):c.2146C>T (p.Arg716Trp) rs199776076 0.00001
NM_000448.3(RAG1):c.2164G>A (p.Glu722Lys) rs28933392 0.00001
NM_000448.3(RAG1):c.2209C>T (p.Arg737Cys) rs760816389 0.00001
NM_000448.3(RAG1):c.2291G>A (p.Arg764His) rs768809293 0.00001
NM_000448.3(RAG1):c.2326C>T (p.Arg776Trp) rs121918572 0.00001
NM_000448.3(RAG1):c.2327G>A (p.Arg776Gln) rs1254739284 0.00001
NM_000448.3(RAG1):c.2333G>A (p.Arg778Gln) rs121918569 0.00001
NM_000448.3(RAG1):c.2522G>A (p.Arg841Gln) rs748296558 0.00001
NM_000448.3(RAG1):c.2615T>A (p.Leu872Ter) rs749360497 0.00001
NM_000448.3(RAG1):c.2689C>T (p.Arg897Ter) rs757797994 0.00001
NM_000448.3(RAG1):c.2867T>C (p.Ile956Thr) rs182385524 0.00001
NM_000448.3(RAG1):c.2917C>T (p.Arg973Cys) rs1389614116 0.00001
NM_000448.3(RAG1):c.2918G>A (p.Arg973His) rs1384545687 0.00001
NM_000448.3(RAG1):c.2923C>T (p.Arg975Trp) rs121918570 0.00001
NM_000448.3(RAG1):c.2974A>G (p.Lys992Glu) rs539590514 0.00001
NM_000448.3(RAG1):c.2981A>G (p.His994Arg) rs775412266 0.00001
NM_000448.3(RAG1):c.424C>T (p.Arg142Ter) rs773929270 0.00001
NM_000448.3(RAG1):c.691C>T (p.Gln231Ter) rs1257740588 0.00001
NM_000448.3(RAG1):c.983G>A (p.Cys328Tyr) rs121918571 0.00001
NM_000448.3(RAG1):c.999T>A (p.Tyr333Ter) rs902350422 0.00001
NM_000448.2(RAG1):c.[1213A>G;1871G>A]
NM_000448.2(RAG1):c.[1229G>A;1863delG]
NM_000448.2(RAG1):c.[1519C>T;2210G>A]
NM_000448.2(RAG1):c.[1681C>T;1815G>C]
NM_000448.2(RAG1):c.[1871G>A;2182T>C]
NM_000448.2(RAG1):c.[2119G>C;519delT]
NM_000448.3(RAG1):c.1010del (p.Pro337fs) rs2494754161
NM_000448.3(RAG1):c.1048_1075delinsAAAAGAGTG (p.Val350fs) rs1590702729
NM_000448.3(RAG1):c.1096G>T (p.Glu366Ter) rs2494754517
NM_000448.3(RAG1):c.1148_1149del (p.Lys383fs) rs2494754724
NM_000448.3(RAG1):c.1181G>A (p.Arg394Gln) rs1850805503
NM_000448.3(RAG1):c.1210C>T (p.Arg404Trp) rs764981110
NM_000448.3(RAG1):c.1286A>G (p.Asp429Gly) rs104894292
NM_000448.3(RAG1):c.1297del (p.Val433fs) rs2494755383
NM_000448.3(RAG1):c.1366del (p.Ala456fs) rs1417654713
NM_000448.3(RAG1):c.140del (p.Lys47fs) rs2133292794
NM_000448.3(RAG1):c.1460T>G (p.Met487Arg) rs1850812562
NM_000448.3(RAG1):c.1528G>T (p.Glu510Ter) rs759401797
NM_000448.3(RAG1):c.1612_1624del (p.Ile538fs) rs749256215
NM_000448.3(RAG1):c.1621del (p.Leu541fs) rs1590703275
NM_000448.3(RAG1):c.1653C>G (p.Tyr551Ter) rs901089989
NM_000448.3(RAG1):c.1677G>T (p.Arg559Ser) rs199474681
NM_000448.3(RAG1):c.1723G>T (p.Glu575Ter) rs2494757326
NM_000448.3(RAG1):c.1758_1760delinsGAATC (p.Asp587fs) rs2494757458
NM_000448.3(RAG1):c.1767C>G (p.Tyr589Ter) rs991089005
NM_000448.3(RAG1):c.1798del (p.Glu600fs) rs2133296385
NM_000448.3(RAG1):c.1864del (p.Ala622fs) rs1564989455
NM_000448.3(RAG1):c.1870C>T (p.Arg624Cys) rs199474688
NM_000448.3(RAG1):c.1981_1983del (p.Met661del) rs774103837
NM_000448.3(RAG1):c.2005G>A (p.Glu669Lys) rs878853004
NM_000448.3(RAG1):c.2018_2691delinsGCG (p.Ala673fs) rs2494758555
NM_000448.3(RAG1):c.2033_2034del (p.Leu678fs) rs2494758617
NM_000448.3(RAG1):c.2065G>T (p.Glu689Ter) rs2133296872
NM_000448.3(RAG1):c.206del (p.Ala69fs) rs2494750488
NM_000448.3(RAG1):c.2196_2197del (p.Leu732_Cys733insTer) rs2494759199
NM_000448.3(RAG1):c.2199T>A (p.Cys733Ter) rs1850830824
NM_000448.3(RAG1):c.2228del (p.Asn743fs) rs1318017328
NM_000448.3(RAG1):c.2251del (p.Arg751fs) rs2494759451
NM_000448.3(RAG1):c.2320G>T (p.Glu774Ter) rs104894282
NM_000448.3(RAG1):c.2332C>T (p.Arg778Trp) rs752020152
NM_000448.3(RAG1):c.2410del (p.Ala804fs) rs2494760163
NM_000448.3(RAG1):c.2434C>T (p.Gln812Ter) rs2494760278
NM_000448.3(RAG1):c.2449G>T (p.Glu817Ter) rs2494760396
NM_000448.3(RAG1):c.2449del (p.Glu817fs) rs2494760363
NM_000448.3(RAG1):c.2475del (p.Glu827fs) rs2133297611
NM_000448.3(RAG1):c.2487_2488delinsTT (p.Arg829_Lys830delinsSerTer) rs1850837839
NM_000448.3(RAG1):c.2557_2560dup (p.Gly854fs) rs2494760982
NM_000448.3(RAG1):c.2615T>G (p.Leu872Ter) rs749360497
NM_000448.3(RAG1):c.2623del (p.Ser875fs) rs2494761283
NM_000448.3(RAG1):c.2627del (p.Glu876fs) rs2494761308
NM_000448.3(RAG1):c.270del (p.Lys90fs)
NM_000448.3(RAG1):c.2735A>G (p.Tyr912Cys) rs104894290
NM_000448.3(RAG1):c.2736_2737del (p.Tyr912_Ser913delinsTer) rs1317208073
NM_000448.3(RAG1):c.2772_2773insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCCATCTCCTGACCTATAGATCCACCAGCCTCTTCATCCAAAAGTGCTTGGATTACAGGCTTCAGCCACCGCGCCCGGCCT (p.Thr925delinsPhePhePhePhePhePheXaaXaaXaaXaaSerIleSerTer)
NM_000448.3(RAG1):c.2814T>G (p.Tyr938Ter) rs104894283
NM_000448.3(RAG1):c.2850del (p.Ile950fs) rs2133298263
NM_000448.3(RAG1):c.2877G>A (p.Trp959Ter) rs1850847819
NM_000448.3(RAG1):c.2882_2891del (p.Ser961fs) rs1195475275
NM_000448.3(RAG1):c.2903_2907del (p.Asn968fs) rs2494762661
NM_000448.3(RAG1):c.2942A>C (p.Gln981Pro) rs104894288
NM_000448.3(RAG1):c.305_312del (p.Ile102fs) rs760448302
NM_000448.3(RAG1):c.3074dup (p.Leu1025fs) rs1564990390
NM_000448.3(RAG1):c.336dup (p.Ile113fs) rs4151026
NM_000448.3(RAG1):c.354del (p.Phe118fs) rs1480764714
NM_000448.3(RAG1):c.360_367del (p.Asp121fs) rs1590701881
NM_000448.3(RAG1):c.404dup (p.Gly135_Lys136insTer) rs2494751587
NM_000448.3(RAG1):c.519del (p.Glu174fs) rs1241698978
NM_000448.3(RAG1):c.539G>A (p.Trp180Ter) rs2494752082
NM_000448.3(RAG1):c.54del (p.Gln19fs) rs2494749848
NM_000448.3(RAG1):c.555del (p.Lys186fs) rs786205615
NM_000448.3(RAG1):c.611_612insT (p.Trp204fs) rs2494752351
NM_000448.3(RAG1):c.612G>A (p.Trp204Ter) rs1199316807
NM_000448.3(RAG1):c.659del (p.Gly220fs) rs1850791903
NM_000448.3(RAG1):c.736_737delinsA (p.Ala246fs) rs2494752916
NM_000448.3(RAG1):c.746dup (p.His249fs) rs886041745
NM_000448.3(RAG1):c.775del (p.Ser259fs) rs878853031
NM_000448.3(RAG1):c.937del (p.Cys313fs) rs2494753892
NM_000448.3(RAG1):c.940C>T (p.Arg314Trp) rs121918568
NM_000448.3(RAG1):c.967del (p.Val323fs) rs1590702629
NM_000448.3(RAG1):c.987del (p.Ser330fs) rs1564988767
NM_000448.3(RAG1):c.994C>T (p.Arg332Ter) rs568867325

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